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Undifferentiated Pleomorphic Sarcoma With Mismatch Repair Deficiency Arising From the Heart
Callum E Yates1, Gerard W Connors1, Anjan Gurung1
1Princess Alexandra Hospital, Brisbane, Australia.
JACC. Case Reports
|June 6, 2025
Summary
Familial cancer syndromes rarely cause heart tumors. This case study reveals a primary cardiac tumor with a specific genetic marker, suggesting a link to Lynch syndrome.
Area of Science:
- Oncology
- Genetics
- Cardiology
Background:
- Cardiac malignancies are infrequently associated with hereditary cancer predispositions.
- Familial cancer syndromes, such as Lynch syndrome, are typically linked to gastrointestinal and gynecological cancers.
Purpose of the Study:
- To report a rare case of a primary cardiac tumor.
- To investigate the potential association between cardiac tumors and genetic cancer syndromes, specifically Lynch syndrome.
Main Methods:
- Histopathological examination of a primary cardiac tumor.
- Immunohistochemical analysis for mismatch repair (MMR) gene expression.
Main Results:
- The cardiac tumor exhibited loss of staining for mismatch repair genes.
- This molecular phenotype is characteristic of Lynch syndrome.
Conclusions:
- Primary cardiac tumors can present with genetic alterations typically seen in Lynch syndrome.
- This finding expands the known spectrum of Lynch syndrome-associated phenotypes and suggests a potential, albeit rare, link between cardiac malignancies and familial cancer syndromes.
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